The Senior-Loken syndrome: Two cases from the State of Qatar 1411-1413
Dr. Muftah Othman
MMedSci, MRCP, Hamad Medical Corporation,
Nephrology - Medicine,
P.O Box 3050, Doha, Qatar
We are describing two sisters with the rare Senior-Loken syndrome, which is a combination of familial juvenile nephronophthisis and retinal dystrophy. The earliest presenting features include an impaired urinary concentrating ability, leading to polyuria and polydipsia and these are associated with visual impairment. The two patients had blindness shortly after their births. They presented to us with evidence of chronic kidney disease (CKD) in their teens, that required the initiation of the renal replacement therapy. We are reporting these two cases, as this was the first occurrence of this condition in the State of Qatar.